Waardenburg's syndrome: variations in expressivity.
Twenty-seven subjects with a family history of Waardenburg's syndrome were examined with respect to 18 specific characteristics of the syndrome, with particular emphasis in identifying the spectrum of the phenotypic expression of affected persons. Our results indicate that patients with the syndrome may have a variety of clinical signs, and an accurate diagnosis will therefore depend on a thorough and pertinent family history and physical examination.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D003638:Deafness / Q000151:congenital / Q000175:diagnosis / Q000235:genetics; D005260:Female; D006320:Hearing Tests; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D014724:Vestibular Function Tests; D014849:Waardenburg Syndrome / Q000175:diagnosis / Q000235:genetics*